Publication date: March 2017
Source:Neurobiology of Aging, Volume 51
Author(s): William Sproviero, Aleksey Shatunov, Daniel Stahl, Maryam Shoai, Wouter van Rheenen, Ashley R. Jones, Safa Al-Sarraj, Peter M. Andersen, Nancy M. Bonini, Francesca L. Conforti, Philip Van Damme, Hussein Daoud, Maria Del Mar Amador, Isabella Fogh, Monica Forzan, Ben Gaastra, Cinzia Gellera, Aaron D. Gitler, John Hardy, Pietro Fratta, Vincenzo La Bella, Isabelle Le Ber, Tim Van Langenhove, Serena Lattante, Yi-Chung Lee, Andrea Malaspina, Vincent Meininger, Stéphanie Millecamps, Richard Orrell, Rosa Rademakers, Wim Robberecht, Guy Rouleau, Owen A. Ross, Francois Salachas, Katie Sidle, Bradley N. Smith, Bing-Wen Soong, Gianni Sorarù, Giovanni Stevanin, Edor Kabashi, Claire Troakes, Christine van Broeckhoven, Jan H. Veldink, Leonard H. van den Berg, Christopher E. Shaw, John F. Powell, Ammar Al-Chalabi
We investigated a CAG trinucleotide repeat expansion in the ATXN2 gene in amyotrophic lateral sclerosis (ALS). Two new case-control studies, a British dataset of 1474 ALS cases and 567 controls, and a Dutch dataset of 1328 ALS cases and 691 controls were analyzed. In addition, to increase power, we systematically searched PubMed for case-control studies published after 1 August 2010 that investigated the association between ATXN2 intermediate repeats and ALS. We conducted a meta-analysis of the new and existing studies for the relative risks of ATXN2 intermediate repeat alleles of between 24 and 34 CAG trinucleotide repeats and ALS. There was an overall increased risk of ALS for those carrying intermediate sized trinucleotide repeat alleles (odds ratio 3.06 [95% confidence interval 2.37–3.94]; p = 6 × 10−18), with an exponential relationship between repeat length and ALS risk for alleles of 29–32 repeats (R2 = 0.91, p = 0.0002). No relationship was seen for repeat length and age of onset or survival. In contrast to trinucleotide repeat diseases, intermediate ATXN2 trinucleotide repeat expansion in ALS does not predict age of onset but does predict disease risk.
http://ift.tt/2lw57In
Medicine by Alexandros G. Sfakianakis,Anapafseos 5 Agios Nikolaos 72100 Crete Greece,00302841026182,00306932607174,alsfakia@gmail.com,
Ετικέτες
Πέμπτη 9 Φεβρουαρίου 2017
ATXN2 trinucleotide repeat length correlates with risk of ALS
Εγγραφή σε:
Σχόλια ανάρτησης (Atom)
-
Summary Insulinomas are rare neuroendocrine tumours that classically present with fasting hypoglycaemia. This case report discusses an un...
-
The online platform for Taylor & Francis Online content New for Canadian Journal of Remote Sen...
Δεν υπάρχουν σχόλια:
Δημοσίευση σχολίου